| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Renal coloboma syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (splice donor variant) | Renal coloboma syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Focal segmental glomerulosclerosis 7 | |
| | | Duplication (inframe_insertion) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (nonsense) | Focal segmental glomerulosclerosis 7 | |
| | | Microsatellite (frameshift variant) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | GConflicting classifications of pathogenicity |
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